A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6735362



Internal ID10145163
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:49491394..49492388hg38UCSC Ensembl
Outerchr14:49958112..49959106hg19UCSC Ensembl
Cytoband14q21.3
Allele length
AssemblyAllele length
hg38995
hg19995
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2748703
Supporting Variants
SamplesSSM049
Known Genes
MethodSequencing
AnalysisBreakdancer:4 times standard deviation,VariationHunter:4 times standard deviation and at least 3 supportting reads
PlatformIllumina HiSeq 2000
Comments
ReferenceWong_et_al_2012b
Pubmed ID23290073
Accession Number(s)essv6735362
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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